Trichorhinophalangeal syndrome type 1

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Trichorhinophalangeal syndrome type 1

A rare multiple congenital anomalies syndrome characterized by short stature sparse and depigmented scalp hair typical facial characteristics (broad eyebrows especially the medial portion broad nasal ridge and tip underdeveloped nasal alae long philtrum thin upper lip vermilion and protruding ears) and limb anomalies (brachydactyly short metacarpals and metatarsals cone-shaped phalangeal epiphyses dystrophic nails and hip dysplasia).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Trichorhinophalangeal syndrome type 1?

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